Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760043106
rs760043106
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs760043106
rs760043106
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs760043106
rs760043106
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.710 GeneticVariation BEFREE Our analyses suggest that there are fundamental differences in breast tumors of CHEK2:p.I157T and c.1100delC carriers. 27716369

2016